Mitochondrial diseases in North America: An analysis of the NAMDC Registry

OBJECTIVE: To describe clinical, biochemical, and genetic features of participants with mitochondrial diseases (MtDs) enrolled in the North American Mitochondrial Disease Consortium (NAMDC) Registry. METHODS: This cross-sectional, multicenter, retrospective database analysis evaluates the phenotypic...

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Vydáno v:Neurol Genet
Hlavní autoři: Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7164977/
https://ncbi.nlm.nih.gov/pubmed/32337332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000402
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